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Pediatric Research
|
October 20, 2001
Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects
R Van Coster, J Smet, E George, et al.
Human Genetics
|
June 1, 1997
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency
C Marsac, C Benelli, I Desguerre, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
November 13, 2016
Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation
L Grodecká, T Kováčová, M Kramárek, et al.
Journal of Medical Genetics
|
January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
H A L Tuppen, F Fattori, R Carrozzo, et al.
Thrombosis and Haemostasis
|
October 6, 1998
The molecular basis of antithrombin deficiency in Belgian and Dutch families
K Jochmans, W Lissens, S Seneca, et al.
Human Mutation
|
February 19, 2000
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
W Lissens, L De Meirleir, S Seneca, et al.
Acta Anaesthesiologica Scandinavica
|
January 21, 2012
Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
A V Vanlander, P G Jorens, J Smet, et al.
Clinical Genetics
|
April 14, 2018
Expanding the clinical spectrum of biallelic ZNF335 variants
K Stouffs, A B Stergachis, T Vanderhasselt, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
December 19, 2009
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C
B Dermaut, S Seneca, L Dom, et al.
JMIR Formative Research
|
March 24, 2026
Development of a Culturally Adapted Smartphone App (IndigeQuit) Designed to Help American Indian and Alaska Native People Quit Commercial Cigarettes: User-Centered Mixed Methods Study
Jonathan B Bricker, Margarita Santiago-Torres, Brianna M Sullivan, et al.
Page
of 6
Search research articles
Search
Showing results (51-60 of 60) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 60 results.
Pediatric Research
|
October 20, 2001
Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects
R Van Coster, J Smet, E George, et al.
Human Genetics
|
June 1, 1997
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency
C Marsac, C Benelli, I Desguerre, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
November 13, 2016
Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation
L Grodecká, T Kováčová, M Kramárek, et al.
Journal of Medical Genetics
|
January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
H A L Tuppen, F Fattori, R Carrozzo, et al.
Thrombosis and Haemostasis
|
October 6, 1998
The molecular basis of antithrombin deficiency in Belgian and Dutch families
K Jochmans, W Lissens, S Seneca, et al.
Human Mutation
|
February 19, 2000
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
W Lissens, L De Meirleir, S Seneca, et al.
Acta Anaesthesiologica Scandinavica
|
January 21, 2012
Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
A V Vanlander, P G Jorens, J Smet, et al.
Clinical Genetics
|
April 14, 2018
Expanding the clinical spectrum of biallelic ZNF335 variants
K Stouffs, A B Stergachis, T Vanderhasselt, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
December 19, 2009
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C
B Dermaut, S Seneca, L Dom, et al.
JMIR Formative Research
|
March 24, 2026
Development of a Culturally Adapted Smartphone App (IndigeQuit) Designed to Help American Indian and Alaska Native People Quit Commercial Cigarettes: User-Centered Mixed Methods Study
Jonathan B Bricker, Margarita Santiago-Torres, Brianna M Sullivan, et al.
Page
of 6